title: Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients.
abstract: Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited muscle diseases caused by mutations in the dystrophin gene. The reading frame rule explains the genotype-phenotype relationship in DMD/BMD. In Vietnam, extensive mutation analysis has never been conducted in DMD/BMD. Here, 152 Vietnamese muscular dystrophy patients were examined for dystrophin exon deletion by amplifying 19 deletion-prone exons and deletion ends were confirmed by dystrophin cDNA analysis if necessary. The result was that 82 (54%) patients were found to have exon deletions, thus confirming exact deletion ends. A further result was that 37 patterns of deletion were classified. Deletions of exons 45-50 and 49-52 were the most common patterns identified, numbering six cases each (7.3%). The reading frame rule explained the genotype-phenotype relationship, but not five (6.1%) DMD cases. Each of five patients had deletions of exons 11-27 in common. The applicability of the therapy producing semifunctional in frame mRNA in DMD by inducing skipping of a single exon was examined. Induction of exon 51 skipping was ranked at top priority, since 16 (27%) patients were predicted to have semifunctional mRNA skipping. Exons 45 and 53 were the next ranked, with 12 (20%) and 11 (18%) patients, respectively. The largest deletion database of the dystrophin gene, established in Vietnamese DMD/BMD patients, disclosed a strong indication for exon-skipping therapy.
authors.affiliation: Center for Gene and Protein Research, Hanoi Medical University , Hanoi , Vietnam.
authors.forename: Van Khanh
authors.initials: VK
authors.lastname: Tran
authors.forename: Van Thanh
authors.initials: VT
authors.lastname: Ta
authors.forename: Dung Chi
authors.initials: DC
authors.lastname: Vu
authors.forename: Suong Thi-Bang
authors.initials: ST
authors.lastname: Nguyen
authors.forename: Hai Ngoc
authors.initials: HN
authors.lastname: Do
authors.forename: Minh Hieu
authors.initials: MH
authors.lastname: Ta
authors.forename: Thinh Huy
authors.initials: TH
authors.lastname: Tran
authors.forename: Masafumi
authors.initials: M
authors.lastname: Matsuo
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D017353:Gene Deletion; D015316:Genetic Therapy / Q000379:methods; D005838:Genotype; D006801:Humans; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000628:therapy; D010641:Phenotype; D055815:Young Adult
chemical_list: D016189:Dystrophin